Variant report

Variant	nsv534085
Chromosome Location	chrX:74360310-74516106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1136)
CpG islands
(count:1101)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:74370505-74370707	K562	blood:	n/a	n/a
2	ARID3A	chrX:74431950-74432150	K562	blood:	n/a	n/a
3	ARID3A	chrX:74494954-74495074	K562	blood:	n/a	n/a
4	ARID3A	chrX:74493738-74494608	HepG2	liver:	n/a	n/a
5	ATF1	chrX:74430503-74430792	K562	blood:	n/a	n/a
6	ATF1	chrX:74372096-74372360	K562	blood:	n/a	n/a
7	ATF1	chrX:74493701-74494122	K562	blood:	n/a	n/a
8	ATF2	chrX:74498817-74499190	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chrX:74449522-74450026	GM12878	blood:	n/a	n/a
10	BACH1	chrX:74493650-74493945	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chrX:74498829-74499126	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chrX:74448701-74449041	GM12878	blood:	n/a	n/a
13	BATF	chrX:74448747-74448991	GM12878	blood:	n/a	n/a
14	BATF	chrX:74364887-74365171	GM12878	blood:	n/a	n/a
15	BATF	chrX:74449518-74449958	GM12878	blood:	n/a	n/a
16	BCLAF1	chrX:74375874-74376322	GM12878	blood:	n/a	n/a
17	BCLAF1	chrX:74375693-74376351	GM12878	blood:	n/a	n/a
18	BHLHE40	chrX:74493642-74494610	GM12878	blood:	n/a	n/a
19	BHLHE40	chrX:74493550-74494342	K562	blood:	n/a	n/a
20	BHLHE40	chrX:74493639-74494340	HepG2	liver:	n/a	n/a
21	BHLHE40	chrX:74376034-74376369	HepG2	liver:	n/a	n/a
22	BHLHE40	chrX:74494644-74494801	K562	blood:	n/a	n/a
23	BRCA1	chrX:74493784-74494525	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chrX:74375316-74376308	Hela-S3	cervix:	n/a	n/a
25	CBX3	chrX:74493817-74494098	K562	blood:	n/a	n/a
26	CBX3	chrX:74376015-74376274	K562	blood:	n/a	n/a
27	CCNT2	chrX:74493353-74493688	K562	blood:	n/a	n/a
28	CEBPB	chrX:74376481-74376839	K562	blood:	n/a	n/a
29	CEBPB	chrX:74384379-74384709	K562	blood:	n/a	chrX:74384660-74384671
30	CEBPB	chrX:74375881-74376876	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chrX:74384435-74384671	HepG2	liver:	n/a	chrX:74384660-74384671
32	CEBPB	chrX:74376404-74376912	A549	lung:	n/a	n/a
33	CEBPB	chrX:74376497-74376894	MCF-7	breast:	n/a	n/a
34	CEBPB	chrX:74494290-74494514	IMR90	lung:	n/a	n/a
35	CEBPB	chrX:74420207-74420572	K562	blood:	n/a	chrX:74420379-74420390
36	CEBPB	chrX:74493710-74494592	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chrX:74376300-74376868	IMR90	lung:	n/a	n/a
38	CEBPB	chrX:74376508-74376841	HepG2	liver:	n/a	n/a
39	CEBPB	chrX:74420243-74420559	IMR90	lung:	n/a	chrX:74420379-74420390
40	CEBPB	chrX:74376543-74376777	K562	blood:	n/a	n/a
41	CEBPB	chrX:74371642-74372069	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chrX:74384382-74384654	A549	lung:	n/a	n/a
43	CEBPB	chrX:74431856-74432138	K562	blood:	n/a	n/a
44	CEBPB	chrX:74384351-74384682	IMR90	lung:	n/a	chrX:74384660-74384671
45	CEBPB	chrX:74420195-74420545	A549	lung:	n/a	chrX:74420379-74420390
46	CEBPB	chrX:74420356-74420544	H1-hESC	embryonic stem cell:	n/a	chrX:74420379-74420390
47	CEBPB	chrX:74376506-74376853	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chrX:74376504-74376886	A549	lung:	n/a	n/a
49	CEBPB	chrX:74420290-74420533	HepG2	liver:	n/a	chrX:74420379-74420390
50	CEBPB	chrX:74384377-74384654	Hela-S3	cervix:	n/a	n/a

(count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:74493807-74493857	Jurkat	blood:	n/a
2	chrX:74376241-74376291	PANC-1	pancreas:	n/a
3	chrX:74493779-74493829	Hepatocyte	liver:	n/a
4	chrX:74493807-74493857	Jurkat	blood:	n/a
5	chrX:74376241-74376291	PANC-1	pancreas:	n/a
6	chrX:74493779-74493829	Hepatocyte	liver:	n/a
7	chrX:74493844-74493894	SKMC	muscle:	n/a
8	chrX:74493807-74493857	AoSMC	blood vessel:	n/a
9	chrX:74377604-74377654	U87	brain:	n/a
10	chrX:74376241-74376291	HCM	heart:	n/a
11	chrX:74376251-74376301	HRPEpiC	eye:	n/a
12	chrX:74493847-74493897	AG10803	skin:	n/a
13	chrX:74493352-74493402	NHBE	bronchial:	n/a
14	chrX:74493847-74493897	HNPCEpiC	eye:	n/a
15	chrX:74376313-74376363	LNCaP	prostate:	n/a
16	chrX:74376828-74376878	ProgFib	skin:	n/a
17	chrX:74376811-74376861	NH-A	brain:	n/a
18	chrX:74493779-74493829	CMK	blood:	n/a
19	chrX:74376811-74376861	MCF-7	breast:	n/a
20	chrX:74493847-74493897	HMEC	breast:	n/a
21	chrX:74493352-74493402	NB4	blood:	n/a
22	chrX:74376313-74376363	HAEpiC	amniotic membrane:	n/a
23	chrX:74493908-74493958	H1-hESC	embryonic stem cell:	embryo
24	chrX:74375966-74376016	HMEC	breast:	n/a
25	chrX:74376828-74376878	HAEpiC	amniotic membrane:	n/a
26	chrX:74376828-74376878	SKMC	muscle:	n/a
27	chrX:74493352-74493402	GM19239	blood:	n/a
28	chrX:74377604-74377654	PrEC	prostate:	n/a
29	chrX:74377604-74377654	HRE	kidney:	n/a
30	chrX:74493844-74493894	NHBE	bronchial:	n/a
31	chrX:74375966-74376016	HEK293	kidney:	embryo
32	chrX:74376828-74376878	HCT-116	colon:	n/a
33	chrX:74493779-74493829	HCF	heart:	n/a
34	chrX:74376251-74376301	HAEpiC	amniotic membrane:	n/a
35	chrX:74376251-74376301	Hepatocyte	liver:	n/a
36	chrX:74494066-74494116	HAEpiC	amniotic membrane:	n/a
37	chrX:74376251-74376301	HRE	kidney:	n/a
38	chrX:74494066-74494116	HCM	heart:	n/a
39	chrX:74493779-74493829	AG09309	skin:	n/a
40	chrX:74493779-74493829	HepG2	liver:	n/a
41	chrX:74376241-74376291	CMK	blood:	n/a
42	chrX:74493352-74493402	IMR90	lung:	fetal
43	chrX:74375795-74375845	Caco-2	colon:	n/a
44	chrX:74493352-74493402	HCT-116	colon:	n/a
45	chrX:74493592-74493642	HRE	kidney:	n/a
46	chrX:74376811-74376861	SK-N-SH	brain:	n/a
47	chrX:74376313-74376363	U87	brain:	n/a
48	chrX:74493807-74493857	AG04450	lung:	fetal
49	chrX:74493352-74493402	HCM	heart:	n/a
50	chrX:74377604-74377654	Caco-2	colon:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:74369928..74371573-chrX:74374800..74376424,2	MCF-7	breast:
2	chrX:74372365..74373913-chrX:74374660..74377035,2	K562	blood:
3	chrX:74493535..74495551-chrX:74497269..74499102,2	MCF-7	breast:
4	chrX:74375801..74378134-chrX:74382076..74383594,2	K562	blood:
5	chrX:74414592..74416312-chrX:74417336..74420243,2	MCF-7	breast:
6	chrX:74376635..74378465-chrX:74385183..74387134,3	K562	blood:
7	chrX:74376140..74378134-chrX:74382094..74384468,2	K562	blood:
8	chrX:74367601..74369785-chrX:74374471..74376150,2	K562	blood:
9	chr16:576620..578202-chrX:74374249..74376331,2	MCF-7	breast:
10	chrX:74376635..74378465-chrX:74385183..74387134,3	K562	blood:
11	chrX:74414592..74416312-chrX:74417336..74420243,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229661	TF binding region
ABCB7	TF binding region
UPRT	TF binding region
RNU6-562P	TF binding region
ENSG00000229661	CpG island
ABCB7	CpG island
UPRT	CpG island
RNU6-562P	CpG island
ENSG00000131269	chromatin interactions
ENSG00000094841	chromatin interactions
ENSG00000103326	chromatin interactions

Extended variants
information (count: 1135 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1135 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572942424	chrX:74360352-74360353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187357988	chrX:74360391-74360392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188907111	chrX:74360409-74360410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576774809	chrX:74360440-74360441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540170022	chrX:74360647-74360648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181714425	chrX:74360680-74360681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564816780	chrX:74360757-74360758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185288836	chrX:74360764-74360765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190150921	chrX:74360919-74360920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545675006	chrX:74360931-74360932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5937961	chrX:74360966-74360967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371460979	chrX:74361008-74361009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139812516	chrX:74361086-74361087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12008080	chrX:74361187-74361188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182103042	chrX:74361235-74361236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575905262	chrX:74361450-74361451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5937327	chrX:74361461-74361462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146268731	chrX:74361478-74361479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186160058	chrX:74361650-74361651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148472194	chrX:74361669-74361670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190881004	chrX:74361795-74361796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183984420	chrX:74361926-74361927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188931985	chrX:74361999-74362000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192139148	chrX:74362032-74362033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369871092	chrX:74362098-74362099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142627036	chrX:74362256-74362257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183045784	chrX:74362269-74362270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150970813	chrX:74362397-74362398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139310084	chrX:74362414-74362415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145438528	chrX:74362444-74362445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187015891	chrX:74362477-74362478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373284707	chrX:74362720-74362721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376320008	chrX:74362916-74362917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72630733	chrX:74363002-74363003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142330104	chrX:74363027-74363028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146913340	chrX:74363325-74363326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75642651	chrX:74363347-74363348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76016270	chrX:74363363-74363364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191854425	chrX:74363384-74363385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145877950	chrX:74363485-74363486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184891244	chrX:74363548-74363549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189397776	chrX:74363670-74363671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5981775	chrX:74363895-74363896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192491460	chrX:74363932-74363933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185682853	chrX:74364025-74364026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11798478	chrX:74364066-74364067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12853458	chrX:74364076-74364077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565087798	chrX:74364184-74364185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12851987	chrX:74364191-74364192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369552212	chrX:74364284-74364285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Premature ovarian failure	20952765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1060 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:74348200-74374200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chrX:74352000-74375200	Weak transcription	Right Ventricle	heart
3	chrX:74352200-74373600	Weak transcription	Dnd41	blood
4	chrX:74355800-74365200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chrX:74357800-74363400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chrX:74357800-74367200	Weak transcription	Fetal Kidney	kidney
7	chrX:74359800-74374800	Weak transcription	Fetal Intestine Large	intestine
8	chrX:74360200-74374400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chrX:74362000-74369600	Weak transcription	Hela-S3	cervix
10	chrX:74362400-74363600	Enhancers	Psoas Muscle	Psoas
11	chrX:74363400-74363600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chrX:74364800-74365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chrX:74365000-74365200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chrX:74365200-74365600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chrX:74365200-74374200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chrX:74365600-74369600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chrX:74365600-74375000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:74365800-74375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chrX:74366600-74374400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chrX:74367200-74367400	ZNF genes & repeats	Fetal Lung	lung
21	chrX:74367400-74375200	Weak transcription	Fetal Lung	lung
22	chrX:74367600-74375200	Weak transcription	Ovary	ovary
23	chrX:74368200-74368400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chrX:74368400-74368600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chrX:74368400-74375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chrX:74368600-74368800	Enhancers	Duodenum Mucosa	Duodenum
27	chrX:74368800-74369400	Weak transcription	Duodenum Mucosa	Duodenum
28	chrX:74368800-74371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chrX:74369400-74370200	Enhancers	Stomach Mucosa	stomach
30	chrX:74369400-74371600	Enhancers	Duodenum Mucosa	Duodenum
31	chrX:74369600-74370200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chrX:74369600-74370200	Enhancers	Hela-S3	cervix
33	chrX:74369800-74370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chrX:74369800-74370200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chrX:74369800-74370200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chrX:74370000-74370200	Enhancers	Fetal Intestine Small	intestine
37	chrX:74370000-74374000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chrX:74370200-74371000	Weak transcription	Hela-S3	cervix
39	chrX:74370200-74371200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chrX:74370200-74372200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chrX:74370200-74373800	Weak transcription	Fetal Intestine Small	intestine
42	chrX:74370200-74374400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chrX:74370200-74374400	Weak transcription	Stomach Mucosa	stomach
44	chrX:74370400-74374000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chrX:74370800-74372600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chrX:74371000-74371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chrX:74371000-74372600	Enhancers	Hela-S3	cervix
48	chrX:74371200-74371400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chrX:74371200-74371800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chrX:74371400-74372400	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links